Canonical Allele Identifier: CA2739289490
Gene: GCK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44146501_44146528del , CM000669.2:g.44146501_44146528del GRCh38
NC_000007.13:g.44186100_44186127del , CM000669.1:g.44186100_44186127del GRCh37
NC_000007.12:g.44152625_44152652del NCBI36
NG_008847.1:g.47900_47927del
NG_008847.2:g.56647_56674del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*956_*983del ENSP00000379142.4:n.*956_*983del
ENST00000616242.5:c.*78_*105del ENSP00000482149.2:n.*78_*105del
ENST00000683378.1:n.184_211del
ENST00000345378.7:c.961_988del ENSP00000223366.2:p.Ala321ProfsTer24
ENST00000403799.8:c.958_985del MANE Select ENSP00000384247.3:p.Ala320ProfsTer24
ENST00000671824.1:c.1021_1048del ENSP00000500264.1:p.Ala341ProfsTer24
ENST00000673284.1:c.958_985del ENSP00000499852.1:p.Ala320ProfsTer24
ENST00000345378.6:c.961_988del ENSP00000223366.2:p.Ala321ProfsTer24
ENST00000395796.7:c.955_982del ENSP00000379142.3:p.Ala319ProfsTer24
ENST00000403799.7:c.958_985del ENSP00000384247.3:p.Ala320ProfsTer24
ENST00000437084.1:c.907_934del ENSP00000402840.1:p.Ala303ProfsTer24
ENST00000473353.1:n.256_283del
ENST00000616242.4:c.955_982del ENSP00000482149.1:p.Ala319ProfsTer24
NM_000162.3:c.958_985del NP_000153.1:p.Ala320ProfsTer24
NM_033507.1:c.961_988del NP_277042.1:p.Ala321ProfsTer24
NM_033508.1:c.955_982del NP_277043.1:p.Ala319ProfsTer24
NM_000162.4:c.958_985del NP_000153.1:p.Ala320ProfsTer24
NM_001354800.1:c.958_985del NP_001341729.1:p.Ala320ProfsTer24
NM_001354801.1:c.8+95_8+122del NP_001341730.1:n.8+95_8+122del
NM_033507.2:c.961_988del NP_277042.1:p.Ala321ProfsTer24
NM_033508.2:c.955_982del NP_277043.1:p.Ala319ProfsTer24
NM_000162.5:c.958_985del MANE Select NP_000153.1:p.Ala320ProfsTer24
NM_033507.3:c.961_988del NP_277042.1:p.Ala321ProfsTer24
NM_033508.3:c.955_982del NP_277043.1:p.Ala319ProfsTer24